AI Article Synopsis
- Papillon-Lefèvre syndrome is a rare genetic disorder caused by mutations in the cathepsin C gene, resulting in specific health issues.
- Key features include thickened skin on palms and soles, gum disease leading to early tooth loss, and heightened risk of infections, with liver abscesses being a notable complication.
- The report discusses three siblings in one family, where two showed typical symptoms of the syndrome, while the third sibling died from a liver abscess before being diagnosed.
Article Abstract
Papillon-Lefèvre syndrome is a rare autosomal recessive disorder caused by cathepsin C gene mutation leading to the deficiency of cathepsin C enzymatic activity. The disease is characterized by palmoplantar hyperkeratosis, periodontopathy and precocious loss of dentition, and increased susceptibility to infections. Pyogenic liver abscess is an increasingly recognized complication. Three cases of Papillon-Lefevre syndrome in the same family are presented here. Two of the three siblings presented with characteristic manifestations of the syndrome. The third case had died previously due to liver abscess prior to a diagnosis of Papillon-Lefèvre syndrome.
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